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FLASH GENE
Symbol AUTS2 contributors: mct/ - updated : 27-10-2011
HGNC name autism susceptibility candidate 2
HGNC id 14262
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • MAGUK (membrane associated guanylate kinase homolog) superfamily with a guanylate kinase domain
  • two WW (phosphoserine- or phosphothreonine binding) domains
  • five PDZ domains (PSD95/Discs large/ZO-1)
  • two proline rich domains
  • a PY motif
  • one PPY motif
    • HOMOLOGY
    interspecies homolog to rabbit atrophin 1
    intraspecies homolog to known fibrosin 1 protein (FBS1), which is a fibroblast growth factor
    Homologene
    FAMILY
  • MAGUK (membrane associated guanylate kinase homolog) superfamily
  • AUTS2 family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • frontal cortex marker gene, direct target of TBR1 binding and activation
  • neuronal nuclear protein, involved in the regulation of alcohol intake
  • is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein atrophin 1 binding
    cell & other
    REGULATION
    activated by TBR1
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS2 , MRD26
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia
    Susceptibility
  • to autism (AUTS2)
  • to alcohol consumption
    • Variant & Polymorphism SNP
  • SNP rs6943555 in AUTS2 associated with alcohol consumption
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2